A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970415



Internal ID47602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93854681..93856089hg38UCSC Ensembl
chr5:93190387..93191795hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462473
Supporting Variants
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970415
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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